Late Infantile Neuronal Ceroid Lipofuscinosis Is Due to Splicing Mutations in the CLN2 Gene-Reference-Cited by-同舟云学术

Late Infantile Neuronal Ceroid Lipofuscinosis Is Due to Splicing Mutations in the CLN2 Gene

Published:1999-06 Issue:2 Volume:67 Page:162-168
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Hartikainen Jaana M.,Ju Weina,Wisniewski Krystyna E.,Moroziewicz Dorota N.,Kaczmarski Alexandra L.,McLendon Lucille,Zhong David,Suarez Carolin T.,Brown W.Ted,Zhong Nan

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

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4. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis;Vesa;Nature,1995

5. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis;Sleat;Science,1997

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1. Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update;Journal of Clinical Medicine;2022-10-29

2. Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2;Frontiers in Genetics;2022-08-31

3. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series;Journal of Child Neurology;2020-12-23

4. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease;Human Mutation;2019-07-26

5. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation;Seizure;2019-07